Characteristics of <i>PPM1D</i> truncating mutation carriers.

Characteristics of PPM1D truncating mutation carriers.</p

Cancer types of people who have undergone NGS gene panel testing for hereditary cancer.

Cancer types of people who have undergone NGS gene panel testing for hereditary cancer.</p

Additional file 1: of Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

Table S1. Genes included in the hereditary cancer panel. Table S2. Primers used in the MEMO-PCR to confirm low-level variants in APC. Table S3. Pathogenic or likely pathogenic germline APC variants in patients suspicious for familial adenomatous polyposis. Table S4. All variants identified from NGS hereditary cancer panel. (DOCX 58 kb

NGS data analysis flow and bioinformatics tools.

NGS data analysis flow and bioinformatics tools.</p

Characterization of mutations.

(A) Mutations classified according to the categories of gene functions. (B) Circos diagram showing co-occurrence and mutual exclusivity of mutations.</p

Identification of <i>FLT3</i>- ITD by different NGS algorithms.

Identification of FLT3- ITD by different NGS algorithms.</p

WHO classification of cases enrolled in this study.

WHO classification of cases enrolled in this study.</p

Detection of recurrent translocations in DNA samples by different NGS algorithms.

Detection of recurrent translocations in DNA samples by different NGS algorithms.</p

With capture probes targeting intronic breakpoints, DNA sequencing could detect recurrent translocations.

An example of a case with PML-RARA fusion. The other part (mate) of each paired-end read is located in different genes in different chromosomes.</p

Visualization of copy number analyses.

(A) CNV analysis at the genic or exonic level was performed by comparison of read depths at base level. An example of a KMT2A (MLL)-partial tandem duplication is illustrated. (B) CNV at the whole genome level was estimated by off-target read analysis. Cryptic deletion on 7q was identified, and the case could be reclassified as AML with myelodysplasia-related changes after NGS analysis.</p